Mutagenetix > Incidental Mutation

Incidental Mutation 'R3864:Abcc4'

276466

Institutional Source

Beutler Lab

Gene Symbol

Abcc4

Ensembl Gene

ENSMUSG00000032849

Gene Name

ATP-binding cassette, sub-family C member 4

Synonyms

MOAT-B, MRP4, D630049P08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3864 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118720104-118943631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118853827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 360 (A360V)

Ref Sequence

ENSEMBL: ENSMUSP00000129677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036554] [ENSMUST00000166646]

AlphaFold

E9Q236

Predicted Effect

probably benign
Transcript: ENSMUST00000036554
AA Change: A435V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: A435V

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	92	365	4.5e-37	PFAM
AAA	437	610	5.71e-12	SMART
Pfam:ABC_membrane	714	993	4.2e-47	PFAM
AAA	1067	1251	2.02e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166646
AA Change: A360V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: A360V

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	98	290	4.1e-22	PFAM
AAA	362	535	5.71e-12	SMART
Pfam:ABC_membrane	638	922	4.6e-39	PFAM
AAA	992	1176	2.02e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228848

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology. [provided by MGI curators]

Allele List at MGI

All alleles(143) : Targeted, knock-out(2) Gene trapped(141)

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	G	A	11: 116,487,642 (GRCm39)	G114S	probably damaging	Het
Catsper1	T	C	19: 5,386,204 (GRCm39)	S146P	possibly damaging	Het
Ccny	A	T	18: 9,449,604 (GRCm39)	L23Q	probably damaging	Het
Chml	A	T	1: 175,515,810 (GRCm39)	V37D	probably damaging	Het
Cspg4b	A	G	13: 113,459,485 (GRCm39)	T1339A	possibly damaging	Het
D430041D05Rik	T	C	2: 104,044,522 (GRCm39)	I825M	possibly damaging	Het
Dhx40	A	T	11: 86,680,071 (GRCm39)	V422E	possibly damaging	Het
Evi2	T	A	11: 79,406,472 (GRCm39)	I368F	probably benign	Het
Gm10309	A	C	17: 86,806,421 (GRCm39)		probably benign	Het
Greb1	G	A	12: 16,752,421 (GRCm39)	R974W	probably damaging	Het
Grhl1	T	C	12: 24,665,929 (GRCm39)	*619Q	probably null	Het
Ighv1-7	A	G	12: 114,502,266 (GRCm39)	I67T	probably damaging	Het
Lats1	T	C	10: 7,581,510 (GRCm39)	V765A	probably damaging	Het
Lrrd1	G	A	5: 3,901,248 (GRCm39)	V518I	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Marchf11	C	T	15: 26,387,952 (GRCm39)	A269V	probably damaging	Het
Mep1b	A	G	18: 21,217,226 (GRCm39)	N115S	possibly damaging	Het
Mfn1	A	G	3: 32,617,241 (GRCm39)	D41G	possibly damaging	Het
Naa25	T	A	5: 121,547,260 (GRCm39)	M132K	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Pcdhb3	A	G	18: 37,436,329 (GRCm39)	E765G	probably damaging	Het
Scfd2	T	G	5: 74,558,381 (GRCm39)	K499Q	possibly damaging	Het
Tbc1d2	T	C	4: 46,620,484 (GRCm39)	D442G	probably benign	Het
Wwc1	T	A	11: 35,801,143 (GRCm39)	D98V	probably damaging	Het
Zfp426	G	A	9: 20,381,382 (GRCm39)	T521I	possibly damaging	Het

Other mutations in Abcc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00768:Abcc4	APN	14	118,766,409 (GRCm39)	missense	probably benign	0.03
IGL01152:Abcc4	APN	14	118,836,797 (GRCm39)	missense	probably damaging	1.00
IGL01511:Abcc4	APN	14	118,836,753 (GRCm39)	missense	probably benign	0.03
IGL01604:Abcc4	APN	14	118,765,406 (GRCm39)	missense	possibly damaging	0.94
IGL01725:Abcc4	APN	14	118,738,241 (GRCm39)	missense	probably damaging	1.00
IGL01828:Abcc4	APN	14	118,790,691 (GRCm39)	splice site	probably benign
IGL02174:Abcc4	APN	14	118,738,154 (GRCm39)	missense	probably damaging	0.98
IGL02391:Abcc4	APN	14	118,790,764 (GRCm39)	missense	probably damaging	1.00
IGL02500:Abcc4	APN	14	118,856,338 (GRCm39)	missense	possibly damaging	0.47
IGL02598:Abcc4	APN	14	118,905,781 (GRCm39)	nonsense	probably null
IGL02668:Abcc4	APN	14	118,848,887 (GRCm39)	missense	probably damaging	1.00
IGL02708:Abcc4	APN	14	118,738,213 (GRCm39)	missense	probably damaging	1.00
IGL02859:Abcc4	APN	14	118,753,912 (GRCm39)	missense	probably damaging	1.00
IGL03249:Abcc4	APN	14	118,865,118 (GRCm39)	splice site	probably benign
IGL03257:Abcc4	APN	14	118,852,623 (GRCm39)	missense	probably benign	0.01
IGL03298:Abcc4	APN	14	118,848,880 (GRCm39)	missense	probably damaging	1.00
1mM(1):Abcc4	UTSW	14	118,867,068 (GRCm39)	nonsense	probably null
R0743:Abcc4	UTSW	14	118,790,700 (GRCm39)	missense	possibly damaging	0.90
R0884:Abcc4	UTSW	14	118,790,700 (GRCm39)	missense	possibly damaging	0.90
R1139:Abcc4	UTSW	14	118,738,252 (GRCm39)	missense	possibly damaging	0.56
R1238:Abcc4	UTSW	14	118,835,051 (GRCm39)	splice site	probably benign
R1588:Abcc4	UTSW	14	118,771,484 (GRCm39)	missense	probably benign	0.01
R1678:Abcc4	UTSW	14	118,832,306 (GRCm39)	missense	probably benign	0.08
R1785:Abcc4	UTSW	14	118,790,761 (GRCm39)	missense	probably damaging	0.99
R1786:Abcc4	UTSW	14	118,790,761 (GRCm39)	missense	probably damaging	0.99
R1961:Abcc4	UTSW	14	118,848,871 (GRCm39)	missense	possibly damaging	0.92
R1961:Abcc4	UTSW	14	118,848,868 (GRCm39)	missense	probably damaging	0.98
R1993:Abcc4	UTSW	14	118,763,694 (GRCm39)	missense	probably benign	0.02
R2025:Abcc4	UTSW	14	118,790,737 (GRCm39)	missense	probably benign	0.13
R3613:Abcc4	UTSW	14	118,864,863 (GRCm39)	critical splice donor site	probably null
R4274:Abcc4	UTSW	14	118,867,034 (GRCm39)	missense	probably damaging	1.00
R4459:Abcc4	UTSW	14	118,836,805 (GRCm39)	missense	probably benign	0.11
R4601:Abcc4	UTSW	14	118,869,575 (GRCm39)	missense	probably benign	0.00
R4665:Abcc4	UTSW	14	118,766,414 (GRCm39)	missense	probably benign
R4678:Abcc4	UTSW	14	118,865,103 (GRCm39)	missense	probably damaging	0.97
R4771:Abcc4	UTSW	14	118,721,796 (GRCm39)	missense	probably benign	0.00
R4962:Abcc4	UTSW	14	118,905,811 (GRCm39)	missense	probably benign	0.33
R4997:Abcc4	UTSW	14	118,753,915 (GRCm39)	nonsense	probably null
R5273:Abcc4	UTSW	14	118,832,233 (GRCm39)	missense	possibly damaging	0.76
R5526:Abcc4	UTSW	14	118,868,449 (GRCm39)	missense	probably benign	0.10
R5652:Abcc4	UTSW	14	118,856,339 (GRCm39)	missense	probably benign	0.00
R5820:Abcc4	UTSW	14	118,841,607 (GRCm39)	missense	probably benign	0.14
R5873:Abcc4	UTSW	14	118,763,702 (GRCm39)	missense	probably benign	0.00
R6008:Abcc4	UTSW	14	118,727,978 (GRCm39)	missense	possibly damaging	0.63
R6080:Abcc4	UTSW	14	118,906,462 (GRCm39)	missense	possibly damaging	0.75
R6222:Abcc4	UTSW	14	118,767,368 (GRCm39)	missense	probably damaging	1.00
R6919:Abcc4	UTSW	14	118,832,306 (GRCm39)	missense	probably benign	0.08
R6931:Abcc4	UTSW	14	118,765,400 (GRCm39)	missense	probably damaging	0.99
R7013:Abcc4	UTSW	14	118,763,755 (GRCm39)	missense	probably benign
R7055:Abcc4	UTSW	14	118,832,197 (GRCm39)	nonsense	probably null
R7146:Abcc4	UTSW	14	118,852,593 (GRCm39)	missense	probably damaging	1.00
R7365:Abcc4	UTSW	14	118,865,066 (GRCm39)	missense	probably damaging	1.00
R7402:Abcc4	UTSW	14	118,943,487 (GRCm39)	missense	probably damaging	1.00
R7438:Abcc4	UTSW	14	118,853,858 (GRCm39)	missense	probably benign	0.01
R7528:Abcc4	UTSW	14	118,767,317 (GRCm39)	missense	probably damaging	0.99
R7674:Abcc4	UTSW	14	118,848,899 (GRCm39)	missense	probably damaging	1.00
R7769:Abcc4	UTSW	14	118,852,682 (GRCm39)	frame shift	probably null
R7823:Abcc4	UTSW	14	118,771,484 (GRCm39)	missense	probably benign	0.01
R7847:Abcc4	UTSW	14	118,864,892 (GRCm39)	missense	probably damaging	1.00
R7989:Abcc4	UTSW	14	118,836,772 (GRCm39)	missense	probably benign	0.05
R8044:Abcc4	UTSW	14	118,852,682 (GRCm39)	frame shift	probably null
R8214:Abcc4	UTSW	14	118,738,253 (GRCm39)	missense	probably benign	0.35
R8264:Abcc4	UTSW	14	118,832,254 (GRCm39)	missense	possibly damaging	0.81
R8309:Abcc4	UTSW	14	118,853,804 (GRCm39)	missense	probably damaging	1.00
R8369:Abcc4	UTSW	14	118,864,869 (GRCm39)	missense	probably benign	0.02
R8701:Abcc4	UTSW	14	118,836,785 (GRCm39)	missense	probably benign
R8942:Abcc4	UTSW	14	118,790,732 (GRCm39)	missense	probably damaging	1.00
R8994:Abcc4	UTSW	14	118,771,556 (GRCm39)	critical splice acceptor site	probably null
R9008:Abcc4	UTSW	14	118,849,162 (GRCm39)	missense	probably damaging	0.98
R9100:Abcc4	UTSW	14	118,853,800 (GRCm39)	missense	possibly damaging	0.65
R9119:Abcc4	UTSW	14	118,868,442 (GRCm39)	missense	probably benign	0.16
R9267:Abcc4	UTSW	14	118,869,657 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCCTAAGAACTGTTGAAAGCCAG -3'
(R):5'- TTGAAAAGGCTGTCAAGACGTG -3'

Sequencing Primer
(F):5'- TGTTGAAAGCCAGACAGCC -3'
(R):5'- TCAAGACGTGACAGCCAAAGTG -3'

Posted On

2015-04-06